ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227514 SCV001399875 uncertain significance DiGeorge Syndrome 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 95 of the TBX1 protein (p.Ala95Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBX1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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